DISEASES

Disease-gene associations mined from literature

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Human genes for distal hereditary motor neuronopathy type 1

Distal hereditary motor neuronopathy type 1 [DOID:0111200]

An autosomal dominant distal hereditary motor neuronopathy characterized by slowly-progressive lower limb muscular weakness and atrophy, without sensory impairment that has_material_basis_in heterozygous mutation in locus in the 7q34-q36 chromosome region.

Synonyms:  distal hereditary motor neuronopathy type 1,  DOID:0111200,  distal familial motor neuronopathy type 1,  HMN I,  autosomal dominant distal juvenile spinal muscular atrophy type 1 ...

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.